A Rare Case of Dysmorphism with Duplication in Chromosome 22
Author:
Funder
Department of Biotechnology, India
Publisher
Springer Science and Business Media LLC
Subject
Clinical Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s12291-020-00945-y.pdf
Reference12 articles.
1. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960;20:613–6.
2. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971;2(7731):971–2.
3. Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome). MolSyndromol. 2012;2 (3–5):186–201.
4. Huang Xuan, Xie Yingjun, Fang Qun. 22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder. Biomed Rep. 2017;7(1):51–5.
5. Feenstra I, Koolen DA, Vander Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM. Cryptic duplication of the distal segment of 22q due to a translocation (21; 22): three case reports and a review of the literature. Eur J Med Genet. 2006;49:384–95.
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